Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01811:Kansl1l'

154265

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kansl1l

Ensembl Gene

ENSMUSG00000026004

Gene Name

KAT8 regulatory NSL complex subunit 1-like

Synonyms

1110028C15Rik, C430010P07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

IGL01811

Quality Score

Status

Chromosome

Chromosomal Location

66758407-66856721 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66762462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 802 (S802P)

Ref Sequence

ENSEMBL: ENSMUSP00000063843 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027157] [ENSMUST00000068168] [ENSMUST00000113995] [ENSMUST00000142920]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027157

SMART Domains

Protein: ENSMUSP00000027157
Gene: ENSMUSG00000026005

Domain	Start	End	E-Value	Type
Pfam:Ribul_P_3_epim	6	204	1.3e-70	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000068168
AA Change: S802P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063843
Gene: ENSMUSG00000026004
AA Change: S802P

Domain	Start	End	E-Value	Type
low complexity region	340	355	N/A	INTRINSIC
low complexity region	491	507	N/A	INTRINSIC
low complexity region	518	535	N/A	INTRINSIC
PEHE	755	875	2.42e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113995

SMART Domains

Protein: ENSMUSP00000109628
Gene: ENSMUSG00000026005

Domain	Start	End	E-Value	Type
Pfam:Ribul_P_3_epim	6	208	1.1e-61	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000129190
AA Change: S501P

SMART Domains

Protein: ENSMUSP00000118603
Gene: ENSMUSG00000026004
AA Change: S501P

Domain	Start	End	E-Value	Type
low complexity region	31	46	N/A	INTRINSIC
low complexity region	147	163	N/A	INTRINSIC
low complexity region	174	191	N/A	INTRINSIC
PEHE	455	575	2.42e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142920

SMART Domains

Protein: ENSMUSP00000137941
Gene: ENSMUSG00000026005

Domain	Start	End	E-Value	Type
Pfam:Ribul_P_3_epim	6	49	3.6e-8	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aggf1	G	A	13: 95,488,080 (GRCm39)	T689I	probably benign	Het
Ap1m2	A	G	9: 21,210,600 (GRCm39)	V343A	probably benign	Het
Ccbe1	A	G	18: 66,199,798 (GRCm39)		probably null	Het
Cd1d1	T	C	3: 86,903,895 (GRCm39)	I204V	possibly damaging	Het
Cpeb3	G	A	19: 37,022,008 (GRCm39)	R613C	probably damaging	Het
Dock9	A	T	14: 121,796,440 (GRCm39)	F1821I	probably damaging	Het
Dst	A	T	1: 34,203,173 (GRCm39)	Q694L	probably damaging	Het
Meltf	T	C	16: 31,707,803 (GRCm39)	C397R	probably damaging	Het
Myo1d	A	T	11: 80,583,823 (GRCm39)	V63D	probably damaging	Het
Or4c101	C	T	2: 88,390,409 (GRCm39)	L199F	probably benign	Het
Pycr1	T	A	11: 120,532,092 (GRCm39)	S225C	probably benign	Het
Tbc1d9	T	A	8: 83,960,307 (GRCm39)	C187S	probably damaging	Het
Tnfrsf21	A	C	17: 43,348,504 (GRCm39)	I39L	probably benign	Het
Tnn	T	C	1: 159,934,705 (GRCm39)	D972G	probably damaging	Het

Other mutations in Kansl1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00576:Kansl1l	APN	1	66,763,733 (GRCm39)	missense	possibly damaging	0.83
IGL00825:Kansl1l	APN	1	66,840,671 (GRCm39)	missense	probably benign
IGL01644:Kansl1l	APN	1	66,840,475 (GRCm39)	missense	probably benign	0.01
IGL01690:Kansl1l	APN	1	66,840,232 (GRCm39)	missense	probably damaging	0.98
IGL01966:Kansl1l	APN	1	66,777,227 (GRCm39)	missense	probably damaging	1.00
IGL02549:Kansl1l	APN	1	66,841,127 (GRCm39)	missense	probably benign	0.44
IGL02578:Kansl1l	APN	1	66,840,848 (GRCm39)	nonsense	probably null
IGL02707:Kansl1l	APN	1	66,812,604 (GRCm39)	missense	probably damaging	1.00
IGL03088:Kansl1l	APN	1	66,774,884 (GRCm39)	missense	probably damaging	0.98
IGL03187:Kansl1l	APN	1	66,765,062 (GRCm39)	missense	probably damaging	1.00
IGL03279:Kansl1l	APN	1	66,774,825 (GRCm39)	missense	probably damaging	0.99
arkansasii	UTSW	1	66,801,262 (GRCm39)	missense	probably damaging	1.00
Kansasii	UTSW	1	66,817,265 (GRCm39)	missense	probably null	0.41
PIT4810001:Kansl1l	UTSW	1	66,801,308 (GRCm39)	missense	probably damaging	1.00
R0068:Kansl1l	UTSW	1	66,760,047 (GRCm39)	missense	probably benign	0.00
R0068:Kansl1l	UTSW	1	66,760,047 (GRCm39)	missense	probably benign	0.00
R0070:Kansl1l	UTSW	1	66,840,262 (GRCm39)	missense	probably damaging	0.99
R0312:Kansl1l	UTSW	1	66,817,265 (GRCm39)	missense	probably null	0.41
R0456:Kansl1l	UTSW	1	66,774,885 (GRCm39)	missense	probably damaging	0.99
R0720:Kansl1l	UTSW	1	66,840,515 (GRCm39)	missense	possibly damaging	0.52
R1381:Kansl1l	UTSW	1	66,760,063 (GRCm39)	missense	probably benign	0.01
R1470:Kansl1l	UTSW	1	66,841,156 (GRCm39)	missense	possibly damaging	0.82
R1470:Kansl1l	UTSW	1	66,841,156 (GRCm39)	missense	possibly damaging	0.82
R1759:Kansl1l	UTSW	1	66,841,047 (GRCm39)	missense	probably damaging	0.96
R1840:Kansl1l	UTSW	1	66,817,191 (GRCm39)	missense	probably damaging	1.00
R2299:Kansl1l	UTSW	1	66,812,636 (GRCm39)	missense	probably damaging	1.00
R2888:Kansl1l	UTSW	1	66,763,764 (GRCm39)	missense	probably benign	0.13
R2893:Kansl1l	UTSW	1	66,840,493 (GRCm39)	missense	probably damaging	1.00
R3735:Kansl1l	UTSW	1	66,840,409 (GRCm39)	missense	possibly damaging	0.90
R4249:Kansl1l	UTSW	1	66,812,637 (GRCm39)	missense	probably damaging	1.00
R4448:Kansl1l	UTSW	1	66,777,318 (GRCm39)	missense	probably damaging	0.99
R4710:Kansl1l	UTSW	1	66,840,655 (GRCm39)	missense	possibly damaging	0.66
R4768:Kansl1l	UTSW	1	66,840,292 (GRCm39)	missense	probably damaging	1.00
R5523:Kansl1l	UTSW	1	66,841,271 (GRCm39)	missense	probably benign	0.00
R5645:Kansl1l	UTSW	1	66,840,503 (GRCm39)	missense	probably benign	0.27
R5840:Kansl1l	UTSW	1	66,809,374 (GRCm39)	intron	probably benign
R5964:Kansl1l	UTSW	1	66,765,081 (GRCm39)	missense	probably damaging	1.00
R5990:Kansl1l	UTSW	1	66,774,885 (GRCm39)	missense	probably damaging	0.98
R6009:Kansl1l	UTSW	1	66,774,759 (GRCm39)	missense	probably benign	0.00
R6051:Kansl1l	UTSW	1	66,765,885 (GRCm39)	missense	probably null	1.00
R6092:Kansl1l	UTSW	1	66,812,643 (GRCm39)	missense	probably damaging	1.00
R6316:Kansl1l	UTSW	1	66,774,744 (GRCm39)	missense	probably benign
R6402:Kansl1l	UTSW	1	66,801,352 (GRCm39)	missense	probably damaging	0.99
R6906:Kansl1l	UTSW	1	66,762,437 (GRCm39)	missense	possibly damaging	0.76
R7241:Kansl1l	UTSW	1	66,840,787 (GRCm39)	missense	possibly damaging	0.91
R7434:Kansl1l	UTSW	1	66,801,262 (GRCm39)	missense	probably damaging	1.00
R7716:Kansl1l	UTSW	1	66,840,292 (GRCm39)	missense	probably damaging	1.00
R7793:Kansl1l	UTSW	1	66,817,173 (GRCm39)	missense	probably damaging	1.00
R8187:Kansl1l	UTSW	1	66,840,896 (GRCm39)	missense	possibly damaging	0.77
R8972:Kansl1l	UTSW	1	66,812,101 (GRCm39)	missense	probably damaging	1.00
R9347:Kansl1l	UTSW	1	66,840,347 (GRCm39)	missense	probably benign	0.14
R9386:Kansl1l	UTSW	1	66,765,129 (GRCm39)	missense	probably damaging	1.00
R9749:Kansl1l	UTSW	1	66,760,970 (GRCm39)	missense	probably damaging	1.00
R9750:Kansl1l	UTSW	1	66,817,150 (GRCm39)	missense	probably benign	0.36

Posted On

2014-02-04